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11 Records found.
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1.
Iuso, A. et al.: Mutations in PPCS, encoding phosphopantothenoylcysteine synthetase, cause autosomal-recessive dilated cardiomyopathy. Am. J. Hum. Genet. 102, 1018-1030 (2018)
2.
Iuso, A. et al.: A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy. JIMD Rep., accepted (2018)
3.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
4.
Feichtinger, R.G.* et al.: Biallelic C1QBP mutations cause severe neonatal-, childhood-, or later-onset cardiomyopathy associated with combined respiratory-chain deficiencies. Am. J. Hum. Genet. 101, 525-538 (2017)
5.
Mayosi, B.M.* et al.: Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy. Circ. Cardiovasc. Genet. 10:e001605 (2017)
6.
Crotti, L.* et al.: Genetic modifiers for the long-QT syndrome: How important Is the role of variants in the 3' untranslated region of KCNQ1? Circ. Cardiovasc. Genet. 9, 330-339 (2016)
7.
Crotti, L.* et al.: Response by Crotti et al to letter regarding article, "Genetic modifiers for the long-QT syndrome: How important is the role of variants in the 3 ' untranslated region of KCNQ1?" Circ. Cardiovasc. Genet. 9, 581-582 (2016)
8.
Itoh, H.* et al.: The genetics underlying acquired long QT syndrome: Impact for genetic screening. Eur. Heart J. 37, 1456-1464 (2016)
9.
Makita, N.* et al.: Novel calmodulin (CALM2) mutations associated with congenital arrhythmia susceptibility. Circ. Cardiovasc. Genet. 7, 466-474 (2014)
10.
Crotti, L. ; Dossena, C.* ; Mastantuono, E. ; Dagradi, F.* & Schwartz, P.J.*: Condizioni cliniche associate ad anomalie dell'intervallo QT: Implicazioni cliniche. G. Ital. Cardiol. 14, 55-65 (2013)
11.
Makita, N.* et al.: CALM2 mutations associated with atypical juvenile long QT syndrome. Circulation 128, S:13371 (2013)